1. A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function. Issue 2 (27th November 2017) Authors: Salpietro, Vincenzo; Efthymiou, Stephanie; Manole, Andreea; Maurya, Bhawana; Wiethoff, Sarah; Ashokkumar, Balasubramaniem; Cutrupi, Maria Concetta; Dipasquale, Valeria; Manti, Sara; Botia, Juan A.; Ryten, Mina; Vandrovcova, Jana; Bello, Oscar D.; Bettencourt, Conceicao; Mankad, Kshitij; Mukherjee... Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia. Issue 8 (17th May 2021) Authors: Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havránková, Petra; Winkelmann, Julianne; Zech, Michael; Skorvanek, Matej Journal: Movement disorders Issue: Volume 36:Issue 8(2021) Page Start: 1984 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ADCY5 mutations are another cause of benign hereditary chorea. (7th July 2015) Authors: Mencacci, Niccolo E.; Erro, Roberto; Wiethoff, Sarah; Hersheson, Joshua; Ryten, Mina; Balint, Bettina; Ganos, Christos; Stamelou, Maria; Quinn, Niall; Houlden, Henry; Wood, Nicholas W.; Bhatia, Kailash P. Journal: Neurology Issue: Volume 85:Number 1(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases. (13th September 2016) Authors: Bettencourt, Conceição; Moss, Davina Hensman; Flower, Michael; Wiethoff, Sarah; Brice, Alexis; Goizet, Cyril; Stevanin, Giovanni; Koutsis, Georgios; Karadima, Georgia; Panas, Marios; Yescas-Gómez, Petra; García-Velázquez, Lizbeth Esmeralda; Alonso-Vilatela, María Elisa; Lima, Manuela; Raposo, Maf... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87(2016)Supplement 1 Page Start: A26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CSF NFL in a Longitudinally Assessed PD Cohort: Age Effects and Cognitive Trajectories. Issue 7 (23rd May 2020) Authors: Lerche, Stefanie; Wurster, Isabel; Röben, Benjamin; Zimmermann, Milan; Machetanz, Gerrit; Wiethoff, Sarah; Dehnert, Monique; Rietschel, Lea; Riebenbauer, Benjamin; Deuschle, Christian; Stransky, Elke; Lieplt‐Scarfone, Inga; Gasser, Thomas; Brockmann, Kathrin Journal: Movement disorders Issue: Volume 35:Issue 7(2020) Page Start: 1138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. DNA REPAIR PATHWAYS MODULATE ONSET IN POLYGLUTAMINE DISEASES. Issue 12 (15th November 2016) Authors: Bettencourt, Conceição; Moss, Davina Hensman; Flower, Michael; Wiethoff, Sarah; Giunti, Paola; Durr, Alexandra; Holmans, Peter; Houlden, Henry; Tabrizi, Sarah; Jones, Lesley Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 12(2016) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Issue 6 (6th May 2016) Authors: Bettencourt, Conceição; Hensman‐Moss, Davina; Flower, Michael; Wiethoff, Sarah; Brice, Alexis; Goizet, Cyril; Stevanin, Giovanni; Koutsis, Georgios; Karadima, Georgia; Panas, Marios; Yescas‐Gómez, Petra; García‐Velázquez, Lizbeth Esmeralda; Alonso‐Vilatela, María Elisa; Lima, Manuela; Raposo, Maf... Journal: Annals of neurology Issue: Volume 79:Issue 6(2016:Jun.) Page Start: 983 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. Issue 7 (13th May 2017) Authors: Horga, Alejandro; Laurà, Matilde; Jaunmuktane, Zane; Jerath, Nivedita U; Gonzalez, Michael A; Polke, James M; Poh, Roy; Blake, Julian C; Liu, Yo-Tsen; Wiethoff, Sarah; Bettencourt, Conceição; Lunn, Michael PT; Manji, Hadi; Hanna, Michael G; Houlden, Henry; Brandner, Sebastian; Züchner, Stephan; S... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 88:Issue 7(2017) Page Start: 575 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. (23rd May 2016) Authors: Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia; Lynch, David S.; Elpidorou, Marilena; Bettencourt, Conceicao; Chelban, Viorica; Manole, Andreea; Hamed, Sherifa A.; Haridy, Nourelhoda A.; Federoff, Monica; Preza, Elisavet; Hughes, Deborah; Pittman, Alan; Jaunmuktane, Zane; Brandner, Sebastian; Xi... Journal: Brain Issue: Volume 139:Part 7(2016:Jul.) Page Start: 1904 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. Issue 7 (30th March 2018) Authors: Chelban, Viorica; Wiethoff, Sarah; Fabian‐Jessing, Bjørn K.; Haridy, Nourelhoda A.; Khan, Alaa; Efthymiou, Stephanie; Becker, Esther B. E.; O'Connor, Emer; Hersheson, Joshua; Newland, Katrina; Hojland, Allan Thomas; Gregersen, Pernille A.; Lindquist, Suzanne G.; Petersen, Michael B.; Nielsen, Jør... Journal: Movement disorders Issue: Volume 33:Issue 7(2018) Page Start: 1119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗